A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18676



Internal ID15835331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46739897..46787052hg38UCSC Ensembl
Outerchr10:46739482..46787405hg38UCSC Ensembl
Innerchr10:48138833..48186068hg19UCSC Ensembl
Outerchr10:48138418..48186423hg19UCSC Ensembl
Innerchr10:47758839..47806074hg18UCSC Ensembl
Outerchr10:47758424..47806429hg18UCSC Ensembl
Innerchr10:47758839..47806074hg17UCSC Ensembl
Outerchr10:47758424..47806429hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3847924
hg1948006
hg1848006
hg1748006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18552
Known GenesBMS1P2, BMS1P6, CTSLP2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv18676
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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